Disease #00819 (AUTSX2 (mental retardation, X-linked (MRXS)), OMIM:300495)

Official abbreviation AUTSX2
Name mental retardation, X-linked (MRXS)
OMIM ID 300495
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked, Multifactorial, Isolated Cases (Sporadic)
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene NLGN4X
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00208613 - - - M no China Eastern Asian 04y - - - AUTSX2 global developmental delay (HP:0001263), autistic behavior (HP:0000729) - KDM5C 1 1 Ke Xu
00359603 176570 - - F ? Germany - - - - - AUTSX2 (+) Macrocephaly,(+) Low-set ears,(+) Nevus flammeus,(+) Motor delay,(+) Short foot,(+) Nevus flammeus of the forehead,(+) Neurodevelopmental delay,(+) Small hand MSL3 MSL3 1 1 Andreas Laner
00375518 179786 - - F ? Germany - - - - - AUTSX2 (+) Microcephaly,(+) Seizure,(+) Polymicrogyria,(+) Abnormal cortical gyration,(+) Aplasia/Hypoplasia of the cerebrum,(+) Abnormal nervous system physiology,(+) Decreased head circumference DDX3X DDX3X 1 1 Andreas Laner
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